Name of Disorder:
Cri-du-Chat Syndrome (also known as deletion 5p syndrome, 5p minus or Le Jeune’s syndrome)
Type of Genetic Disorder: It is caused by the lack of a part of the short arm of chromosome 5. It is a rare genetic disorder caused by a mutation. On the gene map, the location is 5p15.2.
Symptoms/Effects:
The syndrome is named for the particular cat-like cry made by children with the disease. Cri-du-Chat literally means "cry" or "call of the cat" in French. Difficulties with the larynx and nervous system are the cause for this peculiar noise. Cri-du-Chat causes issues with swallowing and sucking, so problems with feeding are common. The syndrome often results in uncommon facial features, which may change later on.
More recently discovered signs and symptoms include a round face with full cheeks, flat nasal bridge, low-set ears, and short fingers.
By age two, the cry of the cat disappears for about 33% of the children.
Diagnosis:
The disease is mainly diagnosed by the cry of the child which sounds like a cat meowing, as well as some of the physical features that are caused by Cri-du-Chat. As soon as a "meow" emanates from the crying mouth of a child, the doctor says, "That's Cri-du-Chat, all right!" This disorder is generally diagnosed in the hospital soon after the birth. Chromosome analysis, as well as other genetic testing, can show the deletion of the short arm of the chromosome.
Prognosis:
The syndrome does not prohibit reproduction. However, in males, testes are slightly smaller and have normal spermatogenesis. Children born with the disorder usually weigh very little and suffer from slow growth, and serious cognitive, speech, and motor delays later on in life. Common behavioral problems include hyperactivity, aggression, tantrums, and repetitive movements. Those with the Cri-du-Chat Syndrome have poor verbal skills, causing them to have difficulty communicating. However, research shows that people with this disorder are generally quite happy, friendly, and like to socialize. Also, this disease does not cause early death, though a small percentage are born with serious life-threatening medical conditions, such as organ defects.
Treatment:
There is no treatment for this disease. Because it is a genetic disorder that involves a missing part of a chromosome, we have no current technology capable of fixing this problem.
Statistics:
The chances of having this disease range from 1 in 20,000 to 1 in 50,000. This disease can be found in people of all ethnic groups and countries, even Australia, like Bradley!
"Cri du Chat Syndrome." Healthwise. 7 Aug 2007. National Organization for Rare Disorders. 4 Apr 2008 <http://www.peacehealth.org/kbase/nord/nord19.htm>. Comments Wow!! Great page. I reallylike the sound samples. The cat cries are very interesting! Hopefully there will be treatment sometime in the future.
-Cretinism
You have a lot of great info on this page. You forgot info on how it is inherited though. The fun exercise was quite challenging, that was a great idea. Good Work!!! PR & EN
Wow! Your page is awesome. The pictures were great and the exercise was really creative. You were just missing the word "the" in one of your sections. We took care of it. -CV-2-EE & CV-2-DK
I think it was smart of you to put the karyotype for Cri du Chat on your page. it helps explein what you write, which makes things a lot easier. Haha. AM and VR
We had no idea how this disease was inherited and it had many important facts! We love your pictures, too! HK & JM
You had alot of good facts. We didnt know that it was possible to live a semi-normal life with this disease. TF & BS
Nice page. It's very well organized, which would be good for the quiz. It's sad that there is no cure for the disorder. - Marfan's Syndrome
This is from you teacher...when I clicked on sample A - it sounded like a normal baby cry, yet that is the one you said has the disease.
Sample B sounds more like a cat. It was a great idea to compare the two cries.
Very creative page! I, too, like how you gave a comparison between the two cries. My only advice would to be to recheck your spelling (excersize=exercise), but otherwise, great job! -KF&LF
Cri-du-Chat Syndrome (also known as deletion 5p syndrome, 5p minus or Le Jeune’s syndrome)
Type of Genetic Disorder:
It is caused by the lack of a part of the short arm of chromosome 5. It is a rare genetic disorder caused by a mutation. On the gene map, the location is 5p15.2.
http://k-12.pisd.edu/currInst/science/Genetic/karyo-del5-r-m-gray.gif
Symptoms/Effects:
The syndrome is named for the particular cat-like cry made by children with the disease. Cri-du-Chat literally means "cry" or "call of the cat" in French. Difficulties with the larynx and nervous system are the cause for this peculiar noise. Cri-du-Chat causes issues with swallowing and sucking, so problems with feeding are common. The syndrome often results in uncommon facial features, which may change later on.
More recently discovered signs and symptoms include a round face with full cheeks, flat nasal bridge, low-set ears, and short fingers.
By age two, the cry of the cat disappears for about 33% of the children.
http://www.thailabonline.com/diseasegeneral1/earabnormal.jpg
Diagnosis:
The disease is mainly diagnosed by the cry of the child which sounds like a cat meowing, as well as some of the physical features that are caused by Cri-du-Chat. As soon as a "meow" emanates from the crying mouth of a child, the doctor says, "That's Cri-du-Chat, all right!" This disorder is generally diagnosed in the hospital soon after the birth. Chromosome analysis, as well as other genetic testing, can show the deletion of the short arm of the chromosome.
Prognosis:
The syndrome does not prohibit reproduction. However, in males, testes are slightly smaller and have normal spermatogenesis. Children born with the disorder usually weigh very little and suffer from slow growth, and serious cognitive, speech, and motor delays later on in life. Common behavioral problems include hyperactivity, aggression, tantrums, and repetitive movements. Those with the Cri-du-Chat Syndrome have poor verbal skills, causing them to have difficulty communicating. However, research shows that people with this disorder are generally quite happy, friendly, and like to socialize. Also, this disease does not cause early death, though a small percentage are born with serious life-threatening medical conditions, such as organ defects.
Treatment:
There is no treatment for this disease. Because it is a genetic disorder that involves a missing part of a chromosome, we have no current technology capable of fixing this problem.
Statistics:
The chances of having this disease range from 1 in 20,000 to 1 in 50,000. This disease can be found in people of all ethnic groups and countries, even Australia, like Bradley!
Sample B
Do you know which one features a child with the disease? If you said Sample A, click here. If you think it's Sample B, click here.
Bibliography
"Cri du Chat." Wikipedia. 26 Mar 2008. Wikipedia. 31 Mar 2008 <http://en.wikipedia.org/wiki/Cri-du-chat>.
"Cri du Chat Syndrome." Cri du Chat Syndrome - 5p. 5 Jan 2007. John Hopkins University. 31 Mar 2008 <http://www.ibis-birthdefects.org/start/criducha.htm>.
Kirmse, Brian. "Cri du Chat Syndrome." Health Topics A-Z. 1 July 2007. Mount Sinai School of Medicine. 4 Apr 2008 <http://adam.about.com/encyclopedia/infectiousdiseases/Cri-du-chat-syndrome.htm>.
"Cri du Chat Syndrome." Healthwise. 7 Aug 2007. National Organization for Rare Disorders. 4 Apr 2008 <http://www.peacehealth.org/kbase/nord/nord19.htm>.
Comments
Wow!! Great page. I reallylike the sound samples. The cat cries are very interesting! Hopefully there will be treatment sometime in the future.
-Cretinism
You have a lot of great info on this page. You forgot info on how it is inherited though. The fun exercise was quite challenging, that was a great idea. Good Work!!! PR & EN
Wow! Your page is awesome. The pictures were great and the exercise was really creative. You were just missing the word "the" in one of your sections. We took care of it. -CV-2-EE & CV-2-DK
I think it was smart of you to put the karyotype for Cri du Chat on your page. it helps explein what you write, which makes things a lot easier. Haha. AM and VR
We had no idea how this disease was inherited and it had many important facts! We love your pictures, too! HK & JM
You had alot of good facts. We didnt know that it was possible to live a semi-normal life with this disease. TF & BS
Nice page. It's very well organized, which would be good for the quiz. It's sad that there is no cure for the disorder. - Marfan's Syndrome
This is from you teacher...when I clicked on sample A - it sounded like a normal baby cry, yet that is the one you said has the disease.
Sample B sounds more like a cat. It was a great idea to compare the two cries.
Very creative page! I, too, like how you gave a comparison between the two cries. My only advice would to be to recheck your spelling (excersize=exercise), but otherwise, great job! -KF&LF